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Review

Known Mutations at the Cause of Alpha-1 Antitrypsin Deficiency an Updated Overview of SERPINA1 Variation Spectrum

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Pages 173-194 | Published online: 22 Mar 2021

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Naomi Nanke Kappe, Noga Alagem, Naveh Tov & Jan Stolk. (2023) Governmental Non-Pharmaceutical Interventions during the COVID-19 Pandemic and the COPD Exacerbation and Respiratory Infection Rate in Patients with Alpha-1 Antitrypsin Deficiency. COPD: Journal of Chronic Obstructive Pulmonary Disease 20:1, pages 292-297.
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Cristina Martinez-González, Ignacio Blanco, Isidro Diego, Patricia Bueno & Marc Miravitlles. (2021) Estimated Prevalence and Number of PiMZ Genotypes of Alpha-1 Antitrypsin in Seventy-Four Countries Worldwide. International Journal of Chronic Obstructive Pulmonary Disease 16, pages 2617-2630.
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Articles from other publishers (22)

José M. Hernández-Pérez, Elena Martín-González & Mario A. González-Carracedo. (2023) Alpha-1 Antitrypsin Deficiency and SERPINA1 Variants Could Play a Role in Asthma Exacerbations. Archivos de Bronconeumología 59:7, pages 416-417.
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Francisco Dasí. (2023) Déficit de alfa-1 antitripsina. Medicina Clínica 160:5, pages 203-205.
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Francisco Dasí. (2023) Alpha-1 antitrypsin deficiency. Medicina Clínica (English Edition) 160:5, pages 203-205.
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S.A. Papiris, M. Veith, A.I. Papaioannou, V. Apollonatou, I. Ferrarotti, S. Ottaviani, A. Tzouvelekis, V. Tzilas, N. Rovina, G. Stratakos, I. Gerogianni, Z. Daniil, L. Kolilekas, K. Dimakou, G. Pitsidianakis, N. Tzanakis, S. Tryfon, F. Fragopoulos, E.M. Antonogiannaki, A. Lazaratou, E. Fouka, D. Papakosta, P. Emmanouil, N. Anagnostopoulos, T. Karampitsakos, K. Vlami, M. Kallieri, P. Lyberopoulos, S. Loukides, D. Bouros, A. Bush, M. Balduyck, C. Lombard, V. Cottin, J.F. Mornex, C.F. Vogelmeier, T. Greulich & E.D. Manali. (2023) Alpha1-antitrypsin deficiency in Greece: Focus on rare variants. Pulmonology.
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Olivier Guillaud, Jérôme Dumortier, Eduardo Couchonnal-Bedoya & Mathias Ruiz. (2023) Wilson Disease and Alpha1-Antitrypsin Deficiency: A Review of Non-Invasive Diagnostic Tests. Diagnostics 13:2, pages 256.
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Shuhong Sun, Chao Wang, Pei Zhao, Gabe M. Kline, Julia M.D. Grandjean, Xin Jiang, Richard Labaudiniere, R. Luke Wiseman, Jeffery W. Kelly & William E. Balch. (2023) Capturing the conversion of the pathogenic alpha-1-antitrypsin fold by ATF6 enhanced proteostasis. Cell Chemical Biology 30:1, pages 22-42.e5.
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José Luis Lopez-Campos, Lourdes Osaba, Karen Czischke, José R. Jardim, Mariano Fernandez Acquier, Abraham Ali, Hakan Günen, Noelia Rapun, Estrella Drobnic & Marc Miravitlles. (2022) Feasibility of a genotyping system for the diagnosis of alpha1 antitrypsin deficiency: a multinational cross-sectional analysis. Respiratory Research 23:1.
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J.-F. Mornex, M. Balduyck, A. Cuvelier, V. Cottin & H. Mal. (2022) Des recommandations françaises pour le déficit en alpha1-antitrypsine ; enfin !. Revue des Maladies Respiratoires 39:7, pages 575-577.
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Heli Tiensuu, Antti M. Haapalainen, Pinja Tissarinen, Anu Pasanen, Tomi A. Määttä, Johanna M. Huusko, Steffen Ohlmeier, Ulrich Bergmann, Marja Ojaniemi, Louis J. Muglia, Mikko Hallman & Mika Rämet. (2022) Human placental proteomics and exon variant studies link AAT/SERPINA1 with spontaneous preterm birth. BMC Medicine 20:1.
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